40 research outputs found
Ancient founder mutation is responsible for Imerslund-Gräsbeck Syndrome among diverse ethnicities
Human diversity in Jordan: polymorphic alu insertions in general jordanian and bedouin groups
Jordan, located in the Levant region, is an area crucial for the investigation of human migration between Africa and Eurasia. However, the genetic history of Jordanians has yet to be clarified, including the origin of the Bedouins today resident in Jordan. Here, we provide new genetic data on autosomal independent markers in two Jordanian population samples (Bedouins and the general population) to begin to examine the genetic diversity inside this country and to provide new information about the genetic position of these populations in the context of the Mediterranean and Middle East area. The markers analyzed were 18 Alu polymorphic insertions characterized by their identity by descent, known ancestral state (lack of insertion), and apparent selective neutrality. The results indicate significant genetic differences between Bedouins and general Jordanians (p = 0.038). Whereas Bedouins show a close genetic proximity to North Africans, general Jordanians appear genetically more similar to other Middle East populations. In general, these data are consistent with the hypothesis that Bedouins had an important role in the peopling of Jordan and constitute the original substrate of the current population. However, migration into Jordan in recent years likely has contributed to the diversity among current Jordanian population groups
The eClinical Care Pathway Framework: A novel structure for creation of online complex clinical care pathways and its application in the management of sexually transmitted infections.
Despite considerable international eHealth impetus, there is no guidance on the development of online clinical care pathways. Advances in diagnostics now enable self-testing with home diagnosis, to which comprehensive online clinical care could be linked, facilitating completely self-directed, remote care. We describe a new framework for developing complex online clinical care pathways and its application to clinical management of people with genital chlamydia infection, the commonest sexually transmitted infection (STI) in England.Using the existing evidence-base, guidelines and examples from contemporary clinical practice, we developed the eClinical Care Pathway Framework, a nine-step iterative process. Step 1: define the aims of the online pathway; Step 2: define the functional units; Step 3: draft the clinical consultation; Step 4: expert review; Step 5: cognitive testing; Step 6: user-centred interface testing; Step 7: specification development; Step 8: software testing, usability testing and further comprehension testing; Step 9: piloting. We then applied the Framework to create a chlamydia online clinical care pathway (Online Chlamydia Pathway).Use of the Framework elucidated content and structure of the care pathway and identified the need for significant changes in sequences of care (Traditional: history, diagnosis, information versus Online: diagnosis, information, history) and prescribing safety assessment. The Framework met the needs of complex STI management and enabled development of a multi-faceted, fully-automated consultation.The Framework provides a comprehensive structure on which complex online care pathways such as those needed for STI management, which involve clinical services, public health surveillance functions and third party (sexual partner) management, can be developed to meet national clinical and public health standards. The Online Chlamydia Pathway's standardised method of collecting data on demographics and sexual behaviour, with potential for interoperability with surveillance systems, could be a powerful tool for public health and clinical management.UKCRC Translational Infection Research (TIR) Initiative supported by the Medical Research Council, eSTI2 Consortium (Grant Number G0901608)
Prognostic model to predict postoperative acute kidney injury in patients undergoing major gastrointestinal surgery based on a national prospective observational cohort study.
Background: Acute illness, existing co-morbidities and surgical stress response can all contribute to postoperative acute kidney injury (AKI) in patients undergoing major gastrointestinal surgery. The aim of this study was prospectively to develop a pragmatic prognostic model to stratify patients according to risk of developing AKI after major gastrointestinal surgery. Methods: This prospective multicentre cohort study included consecutive adults undergoing elective or emergency gastrointestinal resection, liver resection or stoma reversal in 2-week blocks over a continuous 3-month period. The primary outcome was the rate of AKI within 7 days of surgery. Bootstrap stability was used to select clinically plausible risk factors into the model. Internal model validation was carried out by bootstrap validation. Results: A total of 4544 patients were included across 173 centres in the UK and Ireland. The overall rate of AKI was 14·2 per cent (646 of 4544) and the 30-day mortality rate was 1·8 per cent (84 of 4544). Stage 1 AKI was significantly associated with 30-day mortality (unadjusted odds ratio 7·61, 95 per cent c.i. 4·49 to 12·90; P < 0·001), with increasing odds of death with each AKI stage. Six variables were selected for inclusion in the prognostic model: age, sex, ASA grade, preoperative estimated glomerular filtration rate, planned open surgery and preoperative use of either an angiotensin-converting enzyme inhibitor or an angiotensin receptor blocker. Internal validation demonstrated good model discrimination (c-statistic 0·65). Discussion: Following major gastrointestinal surgery, AKI occurred in one in seven patients. This preoperative prognostic model identified patients at high risk of postoperative AKI. Validation in an independent data set is required to ensure generalizability
Distribution of trace elements in tissues of shrimp species Litopenaeus vannamei (Boone, 1931) from Bahia, Brazil
Reducing the environmental impact of surgery on a global scale: systematic review and co-prioritization with healthcare workers in 132 countries
Abstract
Background
Healthcare cannot achieve net-zero carbon without addressing operating theatres. The aim of this study was to prioritize feasible interventions to reduce the environmental impact of operating theatres.
Methods
This study adopted a four-phase Delphi consensus co-prioritization methodology. In phase 1, a systematic review of published interventions and global consultation of perioperative healthcare professionals were used to longlist interventions. In phase 2, iterative thematic analysis consolidated comparable interventions into a shortlist. In phase 3, the shortlist was co-prioritized based on patient and clinician views on acceptability, feasibility, and safety. In phase 4, ranked lists of interventions were presented by their relevance to high-income countries and low–middle-income countries.
Results
In phase 1, 43 interventions were identified, which had low uptake in practice according to 3042 professionals globally. In phase 2, a shortlist of 15 intervention domains was generated. In phase 3, interventions were deemed acceptable for more than 90 per cent of patients except for reducing general anaesthesia (84 per cent) and re-sterilization of ‘single-use’ consumables (86 per cent). In phase 4, the top three shortlisted interventions for high-income countries were: introducing recycling; reducing use of anaesthetic gases; and appropriate clinical waste processing. In phase 4, the top three shortlisted interventions for low–middle-income countries were: introducing reusable surgical devices; reducing use of consumables; and reducing the use of general anaesthesia.
Conclusion
This is a step toward environmentally sustainable operating environments with actionable interventions applicable to both high– and low–middle–income countries
Designing a pilot tool to evaluate the quality of Structured Medication Reviews (SMRs) in the Chiswick Primary Care Network
Assessment of DNA damage using chromosomal aberrations assay in lymphocytes of waterpipe smokers
Objectives: The aim of this study was to investigate the genotoxicity of waterpipe smoking in the lymphocytes of waterpipe smokers using chromosomal aberrations (CAs) assay. Materials and Methods: Fifty waterpipe smokers and 18 healthy nonsmokers volunteered to participate in the study. Additionally, 18 heavy cigarette smokers were recruited for comparison. Chromosomal aberrations (CAs) assay was used to evaluate DNA damage in the lymphocytes. Results: The results showed that similarly to cigarette smoking, waterpipe smoking significantly increased the frequencies of CAs (p < 0.01). In addition, the frequencies of CAs increased with more waterpipe use. Conclusions: Waterpipe smoking causes DNA damage to lymphocytes and the damage increases with more waterpipe use
Association of Polymorphisms in DAZL Gene with Male Infertility
Objectives: To investigate the association between A260G (Thr12Ala) and A386G (Thr54Ala) single nucleotide polymorphisms (SNPs) in deleted in azoospermia-like gene (DAZL) and infertility in Jordanian males. Methods: Infertile 170 patients with azoospermia or oligozoospermia and 176 fertile subjects were recruited in the study. DAZL SNPs were genotyped using polymerase chain reaction-restriction fragment length polymorphisms (PCR-RFLP). Results: The data showed that the A260G SNP is common in the Jordanian population with frequency of 10.3% for 260G mutant allele. However, the A386G SNP is absent in the studied population. No significant association was found between the examined SNPs in DAZL gene and men infertility. Conclusion: The A260G and A386G polymorphisms of DAZL seem to play no role in men infertility in Jordanian population
Association of CAT–262C/T with the concentration of catalase in seminal plasma and the risk for male infertility in Algeria
<p>Catalase (CAT) plays a central role in the protection of different cell types against the deleterious effects of hydrogen peroxide. In human, CAT is implicated in many physiological and pathological conditions including idiopathic male infertility. In this study we examined the association between CAT levels in seminal plasma with different sperm parameters and with <i>CAT–</i>262 C/T polymorphism and their risk for idiopathic male infertility in Algeria. Semen and blood samples were obtained from 111 infertile males and 104 fertile controls from the region of Eastern Algeria following informed consent. Standard semen parameters, DNA integrity, and CAT concentration in seminal plasma were evaluated. <i>CAT</i>-262C/T genotypes were screened using allele specific PCR. Seminal CAT activity was significantly different (<i>p</i><0.0001) between infertile males and controls, it was also markedly decreased in oligo-astheno-teratozoospermia (<i>p</i><0.0001), azoospermia (<i>p</i><0.0001), and normozoospermia (<i>p</i>=0.045) subgroups compared to controls. Positive correlations between CAT activity and semen parameters (volume, motility, concentration, and morphology) were detected, but not with sperm DNA integrity. There was no direct association between <i>CAT</i>-262C/T polymorphism and general male infertility. However, the results presented in this study showed that CAT activity is remarkably associated with the <i>CAT</i>-262T allele (<i>p</i>=0.001) and the different <i>CAT</i>-262C/T genotypes. This study highlighted the major differences in the seminal plasma CAT content between infertile and fertile males and the differences of CAT concentration between different <i>CAT</i>-262C/T genotypes carriers.</p